Der Pathologe | 2019
[Hereditary colon cancer in Lynch syndrome/HNPCC syndrome in Germany].
Abstract
BACKGROUND\nHereditary nonpolyposis colorectal cancer (Lynch/HNPCC syndrome) is based on a\xa0germline mutation inducing increased occurrence of colorectal cancer and extracolonic carcinomas in young age. The German HNPCC consortium aims to increase awareness for detection of hereditary colon cancer among patients and physicians.\n\n\nOBJECTIVES\nReliable detection of HNPCC patients is based on a\xa0thorough documentation of patients medical history and on further diagnostics delivered by human genetics and surgical pathology. This manuscript presents a\xa0standardized diagnostic concept.\n\n\nMETHODS\nRelevant literature is reviewed and discussed and diagnostic parameters are outlined. In addition, operating figures of the German HNPCC consortium are presented.\n\n\nRESULTS\nThe German HNPCC consortium is based on an efficient cooperation between clinical physicians, human geneticists, and surgical pathologists. After a\xa0funding period from the Deutsche Krebshilfe, HNPCC diagnostics and preventive medical examinations were transferred into standard care in Germany. In total, 5770 families (8873 patients) were included in HNPCC diagnostics. To date, in 1296 families, mutations of the MLH1-, MSH2-, MSH6-, PMS2-, or EPCAM-gene have been detected. Furthermore, 612 pathogenic variants and 325 variants of unknown significance were found.\n\n\nCONCLUSIONS\nReliable detection of HNPCC patients is based on a\xa0standardized diagnostic concept, which has been established within the German HNPCC consortium.